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Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Among authors: themistocleous ac. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy.
Blesneac I, Themistocleous AC, Fratter C, Conrad LJ, Ramirez JD, Cox JJ, Tesfaye S, Shillo PR, Rice ASC, Tucker SJ, Bennett DLH. Blesneac I, et al. Among authors: themistocleous ac. Pain. 2018 Mar;159(3):469-480. doi: 10.1097/j.pain.0000000000001116. Pain. 2018. PMID: 29176367 Free PMC article.
Reply: Non-freezing cold injury: a multi-faceted syndrome.
Vale TA, Symmonds M, Polydefkis M, Byrnes K, Rice ASC, Themistocleous AC, Bennett DLH. Vale TA, et al. Among authors: themistocleous ac. Brain. 2018 Feb 1;141(2):e10. doi: 10.1093/brain/awx325. Brain. 2018. PMID: 29315377 No abstract available.
Neuropathic pain drives anxiety behavior in mice, results consistent with anxiety levels in diabetic neuropathy patients.
Sieberg CB, Taras C, Gomaa A, Nickerson C, Wong C, Ward C, Baskozos G, Bennett DLH, Ramirez JD, Themistocleous AC, Rice ASC, Shillo PR, Tesfaye S, Edwards RR, Andrews NA, Berde C, Costigan M. Sieberg CB, et al. Among authors: themistocleous ac. Pain Rep. 2018 May 24;3(3):e651. doi: 10.1097/PR9.0000000000000651. eCollection 2018 May. Pain Rep. 2018. PMID: 29922743 Free PMC article.
60 results